Incidental Mutation 'IGL03190:Bcl11a'
ID |
412623 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Bcl11a
|
Ensembl Gene |
ENSMUSG00000000861 |
Gene Name |
BCL11 transcription factor A |
Synonyms |
mouse myeloid leukemia gene, CTIP1, Evi9a, Evi9b, Evi9c, D930021L15Rik, COUP-TF interacting protein 1, 2810047E18Rik, Evi9 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03190
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
24028056-24124123 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 24108333 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 104
(E104K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112948
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000881]
[ENSMUST00000109514]
[ENSMUST00000109516]
[ENSMUST00000118955]
|
AlphaFold |
Q9QYE3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000881
AA Change: E156K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000000881 Gene: ENSMUSG00000000861 AA Change: E156K
Domain | Start | End | E-Value | Type |
Pfam:zf-C2H2_6
|
45 |
73 |
5.9e-9 |
PFAM |
ZnF_C2H2
|
170 |
193 |
7.15e-2 |
SMART |
low complexity region
|
258 |
274 |
N/A |
INTRINSIC |
low complexity region
|
327 |
338 |
N/A |
INTRINSIC |
low complexity region
|
352 |
373 |
N/A |
INTRINSIC |
ZnF_C2H2
|
377 |
399 |
6.23e-2 |
SMART |
ZnF_C2H2
|
405 |
427 |
1.69e-3 |
SMART |
low complexity region
|
456 |
472 |
N/A |
INTRINSIC |
coiled coil region
|
481 |
513 |
N/A |
INTRINSIC |
low complexity region
|
614 |
634 |
N/A |
INTRINSIC |
low complexity region
|
682 |
696 |
N/A |
INTRINSIC |
low complexity region
|
708 |
731 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109514
AA Change: E156K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105140 Gene: ENSMUSG00000000861 AA Change: E156K
Domain | Start | End | E-Value | Type |
Blast:ZnF_C2H2
|
46 |
72 |
8e-10 |
BLAST |
ZnF_C2H2
|
170 |
193 |
7.15e-2 |
SMART |
low complexity region
|
258 |
274 |
N/A |
INTRINSIC |
low complexity region
|
327 |
338 |
N/A |
INTRINSIC |
low complexity region
|
352 |
373 |
N/A |
INTRINSIC |
ZnF_C2H2
|
377 |
399 |
6.23e-2 |
SMART |
ZnF_C2H2
|
405 |
427 |
1.69e-3 |
SMART |
low complexity region
|
456 |
472 |
N/A |
INTRINSIC |
coiled coil region
|
481 |
513 |
N/A |
INTRINSIC |
low complexity region
|
614 |
634 |
N/A |
INTRINSIC |
low complexity region
|
682 |
696 |
N/A |
INTRINSIC |
low complexity region
|
708 |
731 |
N/A |
INTRINSIC |
ZnF_C2H2
|
742 |
764 |
1.41e0 |
SMART |
ZnF_C2H2
|
770 |
792 |
4.24e-4 |
SMART |
ZnF_C2H2
|
800 |
823 |
3.07e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109516
AA Change: E156K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000105142 Gene: ENSMUSG00000000861 AA Change: E156K
Domain | Start | End | E-Value | Type |
Pfam:zf-C2H2_6
|
45 |
73 |
3.2e-8 |
PFAM |
ZnF_C2H2
|
170 |
193 |
7.15e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118955
AA Change: E104K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000112948 Gene: ENSMUSG00000000861 AA Change: E104K
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
118 |
141 |
7.15e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127494
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131383
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutation of this gene results in B cell deficiency, alteration of T cell types, and neonatal lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy4 |
A |
T |
14: 56,016,510 (GRCm39) |
C314S |
probably damaging |
Het |
Agr2 |
T |
A |
12: 36,048,634 (GRCm39) |
I128N |
probably damaging |
Het |
Akr1c6 |
T |
C |
13: 4,496,412 (GRCm39) |
I91T |
possibly damaging |
Het |
Ankrd45 |
A |
G |
1: 160,990,909 (GRCm39) |
I221V |
probably benign |
Het |
Armc3 |
A |
T |
2: 19,293,761 (GRCm39) |
L517F |
probably damaging |
Het |
Atp13a3 |
A |
T |
16: 30,141,766 (GRCm39) |
M1129K |
probably benign |
Het |
Atp6v0a4 |
T |
A |
6: 38,031,491 (GRCm39) |
Q670L |
probably benign |
Het |
Bank1 |
T |
C |
3: 135,806,185 (GRCm39) |
Y483C |
probably damaging |
Het |
Bcan |
A |
T |
3: 87,900,357 (GRCm39) |
|
probably benign |
Het |
Clasp2 |
C |
T |
9: 113,673,208 (GRCm39) |
Q368* |
probably null |
Het |
Clcn1 |
T |
A |
6: 42,267,037 (GRCm39) |
Y71N |
probably benign |
Het |
Cul2 |
C |
T |
18: 3,429,634 (GRCm39) |
T498I |
possibly damaging |
Het |
Fat4 |
A |
G |
3: 39,035,390 (GRCm39) |
D3014G |
probably damaging |
Het |
Flnc |
T |
C |
6: 29,445,636 (GRCm39) |
|
probably benign |
Het |
Il36g |
C |
A |
2: 24,077,272 (GRCm39) |
S28* |
probably null |
Het |
Itgb3bp |
A |
G |
4: 99,677,923 (GRCm39) |
|
probably benign |
Het |
Itm2b |
G |
A |
14: 73,603,229 (GRCm39) |
P120L |
probably damaging |
Het |
Klk1b26 |
T |
C |
7: 43,662,151 (GRCm39) |
F3S |
possibly damaging |
Het |
Lin52 |
T |
C |
12: 84,504,732 (GRCm39) |
V39A |
probably damaging |
Het |
Magt1 |
A |
C |
X: 105,032,622 (GRCm39) |
N242K |
probably benign |
Het |
Nos3 |
A |
G |
5: 24,588,627 (GRCm39) |
M1118V |
probably damaging |
Het |
Or1j13 |
A |
T |
2: 36,369,734 (GRCm39) |
M136K |
probably damaging |
Het |
Or6k2 |
T |
C |
1: 173,987,110 (GRCm39) |
V257A |
probably damaging |
Het |
Paqr5 |
A |
C |
9: 61,880,084 (GRCm39) |
L56R |
probably damaging |
Het |
Pcdhb16 |
T |
C |
18: 37,612,396 (GRCm39) |
F452S |
probably damaging |
Het |
Prdm5 |
T |
A |
6: 65,833,116 (GRCm39) |
|
probably benign |
Het |
Rps6ka5 |
A |
G |
12: 100,524,907 (GRCm39) |
|
probably benign |
Het |
Slc22a5 |
A |
G |
11: 53,765,840 (GRCm39) |
F249L |
probably benign |
Het |
Spata31f1a |
C |
A |
4: 42,848,362 (GRCm39) |
G1265C |
probably benign |
Het |
Ttll2 |
T |
C |
17: 7,618,779 (GRCm39) |
K383E |
probably benign |
Het |
Ube2o |
G |
A |
11: 116,435,954 (GRCm39) |
P353L |
probably damaging |
Het |
Vmn1r63 |
T |
C |
7: 5,806,110 (GRCm39) |
D174G |
probably benign |
Het |
Vmn2r82 |
A |
G |
10: 79,192,643 (GRCm39) |
|
probably null |
Het |
Xpnpep2 |
T |
A |
X: 47,207,205 (GRCm39) |
|
probably benign |
Het |
Zfp352 |
T |
A |
4: 90,111,994 (GRCm39) |
S45T |
possibly damaging |
Het |
Zfp811 |
A |
G |
17: 33,017,855 (GRCm39) |
|
probably benign |
Het |
Zfyve19 |
G |
A |
2: 119,046,717 (GRCm39) |
A304T |
probably damaging |
Het |
|
Other mutations in Bcl11a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01548:Bcl11a
|
APN |
11 |
24,113,346 (GRCm39) |
missense |
probably benign |
0.00 |
R0317:Bcl11a
|
UTSW |
11 |
24,122,697 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1061:Bcl11a
|
UTSW |
11 |
24,114,069 (GRCm39) |
nonsense |
probably null |
|
R1124:Bcl11a
|
UTSW |
11 |
24,113,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R1163:Bcl11a
|
UTSW |
11 |
24,115,143 (GRCm39) |
missense |
probably benign |
0.41 |
R1498:Bcl11a
|
UTSW |
11 |
24,114,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R1599:Bcl11a
|
UTSW |
11 |
24,113,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R1689:Bcl11a
|
UTSW |
11 |
24,114,406 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1689:Bcl11a
|
UTSW |
11 |
24,113,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R1754:Bcl11a
|
UTSW |
11 |
24,114,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R2036:Bcl11a
|
UTSW |
11 |
24,114,087 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2207:Bcl11a
|
UTSW |
11 |
24,113,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R3700:Bcl11a
|
UTSW |
11 |
24,113,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R3779:Bcl11a
|
UTSW |
11 |
24,114,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R4557:Bcl11a
|
UTSW |
11 |
24,114,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R4703:Bcl11a
|
UTSW |
11 |
24,113,725 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5006:Bcl11a
|
UTSW |
11 |
24,114,989 (GRCm39) |
nonsense |
probably null |
|
R5053:Bcl11a
|
UTSW |
11 |
24,114,068 (GRCm39) |
missense |
probably benign |
0.03 |
R5495:Bcl11a
|
UTSW |
11 |
24,115,042 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5581:Bcl11a
|
UTSW |
11 |
24,113,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R5680:Bcl11a
|
UTSW |
11 |
24,114,264 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5790:Bcl11a
|
UTSW |
11 |
24,113,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R6291:Bcl11a
|
UTSW |
11 |
24,108,321 (GRCm39) |
missense |
probably damaging |
0.96 |
R6723:Bcl11a
|
UTSW |
11 |
24,113,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R7116:Bcl11a
|
UTSW |
11 |
24,113,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R7274:Bcl11a
|
UTSW |
11 |
24,113,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R7569:Bcl11a
|
UTSW |
11 |
24,035,458 (GRCm39) |
nonsense |
probably null |
|
R7843:Bcl11a
|
UTSW |
11 |
24,114,831 (GRCm39) |
missense |
probably benign |
0.26 |
R7923:Bcl11a
|
UTSW |
11 |
24,113,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R7964:Bcl11a
|
UTSW |
11 |
24,113,353 (GRCm39) |
missense |
probably benign |
0.28 |
R8211:Bcl11a
|
UTSW |
11 |
24,028,394 (GRCm39) |
missense |
probably damaging |
0.99 |
R8242:Bcl11a
|
UTSW |
11 |
24,113,208 (GRCm39) |
missense |
probably benign |
0.14 |
R8338:Bcl11a
|
UTSW |
11 |
24,114,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R8478:Bcl11a
|
UTSW |
11 |
24,115,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R8896:Bcl11a
|
UTSW |
11 |
24,113,640 (GRCm39) |
missense |
probably benign |
0.00 |
R8911:Bcl11a
|
UTSW |
11 |
24,114,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R9489:Bcl11a
|
UTSW |
11 |
24,114,582 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Bcl11a
|
UTSW |
11 |
24,115,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |